Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.080 | 10 | 87961033 | stop gained | -/ATATCTAG | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.966 | 29 | 2003 | 2018 | |||||
|
4 | 0.882 | 0.080 | 13 | 32319111 | frameshift variant | -/C | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 | 0.030 | 1.000 | 3 | 2001 | 2015 | ||||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 11 | 108307917 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 10 | 87952168 | frameshift variant | -/T | delins | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 1.000 | 0.040 | 5 | 122074125 | stop gained | -/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC | ins | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.030 | 1.000 | 3 | 2015 | 2016 | |||||
|
2 | 1.000 | 0.120 | 9 | 111594264 | frameshift variant | A/- | del | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
2 | 10 | 87960962 | frameshift variant | A/- | del | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 108259050 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
5 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.851 | 0.080 | 19 | 14097604 | missense variant | A/C | snv | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||
|
16 | 0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
12 | 0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 2 | 29222404 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 15 | 66436810 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
4 | 0.925 | 0.080 | 2 | 211377467 | 3 prime UTR variant | A/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.160 | 8 | 127738519 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 3 | 138699042 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 119547946 | intron variant | A/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.120 | 16 | 71714618 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 |